Publications by authors named "Bernhard Weschke"

26Publications

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

J Hum Genet 2020 Nov 12;65(11):1003-1017. Epub 2020 Aug 12.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, Center for Molecular Medicine Cologne (CMMC), Center for Rare Diseases, University of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-020-0803-1DOI Listing
November 2020

Spectrum of cerebral arteriopathies in children with arterial ischemic stroke.

Neurology 2020 06 26;94(23):e2479-e2490. Epub 2020 May 26.

From the Section of Pediatric Neurology (M.F.R.), Department of Pediatrics and Child Health, University of Manitoba, Children's Hospital Research Institute of Manitoba, Winnipeg, Canada; Department of Neurology and Pediatrics (K.A.S., H.J.F.), University of California, San Francisco; University of Toronto (A.-M.S.); Division of Neurology (G.A.d.V., N.D., A.L.), The Hospital for Sick Children, University of Toronto, Ontario; Department of Pediatrics and Clinical Neurosciences (A.K.), Cumming School of Medicine, University of Calgary, Alberta, Canada; Department of Neurology (C.A.-L.), University of Washington, Seattle; Department of Neuropediatrics (B.W.), Charité University Medicine Berlin, Germany; Department of Neurology (J.L.C.), George Washington University, Washington, DC; Department of Neurology (M.T.M.), Royal Children's Hospital Melbourne, Murdoch Children's Research Institute and University of Melbourne, Australia; Boston Children's Hospital (M.R.), Harvard Medical School, Boston, MA; and Division of Child Neurology (T.J.B.), Department of Pediatrics and the Hemophilia and Thrombosis Center, University of Colorado, Denver.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000009557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455362PMC
June 2020

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Am J Hum Genet 2018 04 22;102(4):676-684. Epub 2018 Mar 22.

Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985283PMC
April 2018

Lacosamide Lowers Valproate and Levetiracetam Levels.

Neuropediatrics 2017 Jun 21;48(3):188-189. Epub 2017 Mar 21.

Department of Pediatric Neurology, Center for Chronically Sick Children, Charité University Medicine Berlin, Berlin, Germany.

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1600112
Publisher Site
http://dx.doi.org/10.1055/s-0037-1600112DOI Listing
June 2017

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.

JAMA Neurol 2016 09;73(9):1133-40

Department of Pediatric Hematology and Oncology, University Children's Hospital of Tübingen, Tübingen, Germany6Department of Pediatric Hematology and Oncology, University Children's Hospital Hamburg-Eppendorf, Hamburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaneurol.2016.2067DOI Listing
September 2016

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Am J Med Genet A 2016 09 9;170(9):2274-81. Epub 2016 Jun 9.

Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37798DOI Listing
September 2016

Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.

Eur J Paediatr Neurol 2016 Jul 3;20(4):649-51. Epub 2016 May 3.

Department of Pediatric Nephrology, Charité, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.04.014DOI Listing
July 2016

Acute Disseminated Encephalomyelitis After Human Parechovirus Infection.

Pediatr Infect Dis J 2016 Jan;35(1):35-8

From the *Department of Pediatrics, Charité University Medical Center; †Medical Bioinformatics Group, Free University; ‡Institute for Cell and Neurobiology, Charité University Medical Center; §Center for Social Pediatrics (SPZ), Charité University Medical Center; and ¶National Reference Center for Poliomyelitis and Enteroviruses, Robert Koch Institute, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/INF.0000000000000928DOI Listing
January 2016

Anti-NMDA receptor encephalitis presenting as atypical anorexia nervosa: an adolescent case report.

Eur Child Adolesc Psychiatry 2015 Nov 8;24(11):1321-4. Epub 2015 Feb 8.

Department of Child and Adolescent Psychiatry, Psychosomatic Medicine and Psychotherapy, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs00787-015-06
Web Search
http://link.springer.com/10.1007/s00787-015-0682-8
Publisher Site
http://dx.doi.org/10.1007/s00787-015-0682-8DOI Listing
November 2015

[Magnetic resonance imaging (MRI) in children and adolescents – study design of a feasibility study concerning examination related emotions].

Z Kinder Jugendpsychiatr Psychother 2013 Nov;41(6):447-51

Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, CVK, Charité-Universitätsmedizin Berlin.

View Article

Download full-text PDF

Source
https://econtent.hogrefe.com/doi/10.1024/1422-4917/a000260
Publisher Site
http://dx.doi.org/10.1024/1422-4917/a000260DOI Listing
November 2013

Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

Stroke 2011 Feb 23;42(2):e14-7. Epub 2010 Dec 23.

Department of Neuropediatrics, Charité Universitätsmedizin Berlin, D-13353 Berlin, Germany.

View Article

Download full-text PDF

Source
https://www.ahajournals.org/doi/10.1161/STROKEAHA.110.600023
Publisher Site
http://dx.doi.org/10.1161/STROKEAHA.110.600023DOI Listing
February 2011

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Oligodendroglial transcription factor (OLIG1 and OLIG2) mutations are not associated with Pelizaeus-Merzbacher-like leukodystrophy.

Am J Med Genet B Neuropsychiatr Genet 2007 Apr;144B(3):365-6

Max-Delbrueck-Center for Molecular Medicine, Berlin-Buch, Germany.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.b.30434
Publisher Site
http://dx.doi.org/10.1002/ajmg.b.30434DOI Listing
April 2007

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Nat Med 2006 Mar 19;12(3):307-9. Epub 2006 Feb 19.

Institute of Child Health, University College London with Great Ormond Street Hospital for Children National Health Service Trust, 30 Guilford Street, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nm1366DOI Listing
March 2006